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Stottmann, Rolf
104  Ergebnisse:
Personensuche X
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1

P183: Genome sequencing increases the diagnostic yield in e..:

Ramadesikan, Swetha ; Colwell, Caitlyn ; Marhabaie, Mohammad...
Genetics in Medicine Open.  2 (2024)  - p. 101080 , 2024
Link: https://doi.org/10.1016/..
 
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2

A recurrent, de novo pathogenic variant in ARPC4 disrupts a..:

Laboy Cintron, Dianne ; Muir, Alison M. ; Scott, Abbey...
Human Genetics and Genomics Advances.  3 (2022)  1 - p. 100072 , 2022
Link: https://doi.org/10.1016/..
 
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3

eP255: Proposition of a novel RASopathy mediated by variant..:

Stone, Brandon ; Stottmann, Rolf ; Ho, Mai-Lan.
Genetics in Medicine.  24 (2022)  3 - p. S162 , 2022
Link: https://doi.org/10.1016/..
 
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4

Ttc21b Is Required in Bergmann Glia for Proper Granule Cell..:

Driver, Ashley ; Shumrick, Christopher ; Stottmann, Rolf
Journal of Developmental Biology.  5 (2017)  4 - p. 18 , 2017
Link: https://doi.org/10.3390/..
 
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5

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dynei..:

Gelineau-Morel, Rose ; Lukacs, Marshall ; Weaver, K....
Genes.  7 (2016)  10 - p. 85 , 2016
Link: https://doi.org/10.3390/..
 
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6

ENU Mutagenesis in the Mouse:

Stottmann, Rolf ; Beier, David
Current Protocols in Human Genetics.  82 (2014)  1 - p. , 2014
Link: https://doi.org/10.1002/..
 
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7

ENU Mutagenesis in the Mouse:

Stottmann, Rolf ; Beier, David
Current Protocols in Mouse Biology.  4 (2014)  2 - p. 25-35 , 2014
Link: https://doi.org/10.1002/..
 
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8

Conservation and regulatory associations of a wide affinity..:

Jaeger, Savina A. ; Chan, Esther T. ; Berger, Michael F....
Genomics.  95 (2010)  4 - p. 185-195 , 2010
Link: https://doi.org/10.1016/..
 
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9

The society for craniofacial genetics and developmental bio..:

Brugmann, Samantha A. ; Clouthier, David E. ; Fantauzzo, Katherine A....
American Journal of Medical Genetics Part A.  194 (2024)  8 - p. , 2024
Link: https://doi.org/10.1002/..
 
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10

A distant global control region is essential for normal exp..:

Wilderman, Andrea ; D'haene, Eva ; Baetens, Machteld...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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11

The Society for Craniofacial Genetics and Developmental Bio..:

Stottmann, Rolf W. ; Harris, Matthew P. ; Saint‐Jeannet, Jean‐Pierre..
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1994-2002 , 2023
Link: https://doi.org/10.1002/..
 
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12

The Society for Craniofacial Genetics and Developmental Bio..:

Brugmann, Samantha A. ; Merrill, Amy E. ; Saint‐Jeannet, Jean‐Pierre..
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2258-2266 , 2022
Link: https://doi.org/10.1002/..
 
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13

PPP2R1A neurodevelopmental disorder is associated with cong..:

Baker, Elizabeth K. ; Solivio, Beulah ; Pode‐Shakked, Ben...
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3262-3277 , 2022
Link: https://doi.org/10.1002/..
 
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14

Bi-allelic CAMSAP1 variants cause a clinically recognizable..:

Khalaf-Nazzal, Reham ; Fasham, James ; Inskeep, Katherine A....
The American Journal of Human Genetics.  109 (2022)  11 - p. 2068-2079 , 2022
Link: https://doi.org/10.1016/..
 
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15

Genetic and phenotypic heterogeneity in KIAA0753‐related ci..:

Inskeep, Katherine A. ; Zarate, Yuri A. ; Monteil, Danielle...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 104-115 , 2021
Link: https://doi.org/10.1002/..
 
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